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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:esophageal cancer
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Accession:DOID:5041 term browser browse the term
Definition:A gastrointestinal system cancer that is located_in the esophagus. (DO)
Synonyms:exact_synonym: esophagus cancer;   malignant neoplasm of distal third of esophagus;   malignant neoplasm of lower third of oesophagus;   malignant neoplasm of middle third of oesophagus;   malignant neoplasm of proximal third of esophagus;   malignant neoplasm of upper third esophagus;   malignant tumor of abdominal esophagus;   malignant tumor of distal third of esophagus;   malignant tumor of proximal third of esophagus;   malignant tumor of the middle third of the esophagus
 narrow_synonym: Ca lower third oesophagus;   Ca middle third oesophagus
 related_synonym: ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO
 primary_id: OMIM:133239
 xref: GARD:6383;   ICD10CM:C15.3;   ICD10CM:C15.4;   ICD10CM:C15.5;   ICD9CM:150.2;   ICD9CM:150.3;   ICD9CM:150.4;   ICD9CM:150.5;   ICD9CM:150.8;   NCI:C3028;   NCI:C3533;   NCI:C3534;   NCI:C3535;   NCI:C4764
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
esophageal cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: Esophageal cancer, alcohol-related, susceptibility to ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chr12:34,949,549...34,982,527 JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Esophageal cancer ClinVar PMID:25741868 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Ctnna1 catenin alpha 1 disease_progression IEP RGD PMID:9863006 RGD:2289811 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP protein:increased expression:serum RGD PMID:20232121 RGD:5134997 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:11833070 PMID:26782562 RGD:14700950, RGD:11554919 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Dcc DCC netrin 1 receptor ISO OMIM NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
G Dlec1 DLEC1 cilia and flagella associated protein ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:25741868 NCBI chr 8:118,826,429...118,873,183
Ensembl chr 8:118,826,466...118,873,655 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:29660336 RGD:21409755 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:11833070 PMID:23749488 PMID:12406553 PMID:26782562 RGD:14700950, RGD:14700969, RGD:14700964, RGD:11554919 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:23749488 RGD:14700969 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hmox1 heme oxygenase 1 IEP protein:increased expression:esophagus RGD PMID:20498946 RGD:4145286 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Il5 interleukin 5 treatment IEP RGD PMID:20232121 RGD:5134997 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Lzts1 leucine zipper tumor suppressor 1 ISO esophageal squamous cell carcinoma, OMIM:133239 OMIM
RGD		 PMID:10097140 RGD:1600104 NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203 		JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Esophageal cancer ClinVar PMID:28492532 NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:29660336 RGD:21409755 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mxi1 MAX interactor 1, dimerization protein IAGP RGD PMID:10849326 RGD:1298988 NCBI chr 1:252,323,915...252,383,682
Ensembl chr 1:252,323,303...252,383,681 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA:splice variants:esophagus (human) RGD PMID:24527027 RGD:150519911 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Pten phosphatase and tensin homolog treatment ISO human gene and cells in a mouse model RGD PMID:20378992 RGD:127285592 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Rnf6 ring finger protein 6 ISO OMIM NCBI chr12:8,816,777...8,826,870
Ensembl chr12:8,816,833...8,826,847 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Esophagus cancer
ClinVar Annotator: match by term: Esophageal cancer		 OMIM
ClinVar		 PMID:7664267 PMID:10789724 PMID:15235604 PMID:16928994 PMID:17652900 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Esophagus cancer ClinVar PMID:8164043 PMID:8825920 PMID:9047394 PMID:11101847 PMID:12007217 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Esophageal cancer OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr19:42,432,141...43,360,278 JBrowse link
Barrett's adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 ISO RGD PMID:18059332 RGD:13782259 NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204 		JBrowse link
esophageal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Carcinoma of esophagus ClinVar PMID:17972177 PMID:18431501 PMID:18627636 PMID:18779604 PMID:18951446 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:10027390 PMID:10192393 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Esophageal carcinoma, somatic ClinVar PMID:8187090 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:15623594 PMID:16205628 PMID:16707764 PMID:16863509 PMID:17653080 More... NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:26619011 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:16397024 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO associated with Immune Deficiency Disease, human cells in mouse model RGD PMID:25724470 RGD:127285656 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:16361624 PMID:16618717 PMID:18316791 PMID:19114683 PMID:19679400 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:26619011 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Esophageal carcinoma ClinVar PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 More... NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO associated with Immune Deficiency Disease, human cells in mouse model RGD PMID:25724470 RGD:127285656 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Esophageal carcinoma
ClinVar Annotator: match by term: Carcinoma of esophagus		 ClinVar PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
esophagus adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase onset ISO DNA:SNP:3'utr: (rs4740363) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23525077 PMID:31906887 RGD:127285649 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Barx1 BARX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr17:15,990,412...15,993,887
Ensembl chr17:15,990,412...15,993,887 		JBrowse link
G Bcl2 BCL2, apoptosis regulator onset ISO DNA:SNPs:3'utr: (rs720321, rs17757541) (human) RGD PMID:21472143 RGD:126925218 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Becn1 beclin 1 IEP RGD PMID:22301112 RGD:11561943 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Casp8 caspase 8 onset ISO DNA:SNP:5'utr: (rs1035142) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Cdc5l cell division cycle 5-like disease_progression ISO protein:increased expression:esophageal mucosa (human) RGD PMID:15725809 RGD:10047052 NCBI chr 9:15,564,949...15,603,453
Ensembl chr 9:15,564,767...15,603,450 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Crtc1 CREB regulated transcription coactivator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24121790 NCBI chr16:18,988,197...19,046,913
Ensembl chr16:18,988,250...19,043,381 		JBrowse link
G Ctsb cathepsin B ISO RGD PMID:9770500 RGD:734853 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 onset ISO DNA:SNP:5'utr: (rs2445762) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Dock2 dedicator of cytokinesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr10:18,827,237...19,244,823 JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr17:44,286,495...44,822,788
Ensembl chr17:44,286,485...44,822,788 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human) RGD PMID:18478337 RGD:13207314 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Fas Fas cell surface death receptor ISO associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human) RGD PMID:10340890 RGD:8662425 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism
DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human)		 CTD
RGD		 PMID:24121790 PMID:26383589 RGD:11535321 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide onset ISO DNA:SNP:5'utr: (rs696217) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion:: (human) RGD PMID:17064856 RGD:12792242 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion:: (human) RGD PMID:17064856 RGD:12792242 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Kdr kinase insert domain receptor onset ISO DNA:SNP:5'utr: (rs11941492) (human) RGD PMID:21472143 RGD:126925218 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Mir21 microRNA 21 disease_progression ISO RGD PMID:26481465 RGD:41404702 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mmp1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp14 matrix metallopeptidase 14 onset ISO DNA:SNP:5'utr: (rs2236302) (human) RGD PMID:21472143 RGD:126925218 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO DNA:insertion:promoter:g.-1613insA rs3025058 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:esophagus RGD PMID:25562781 RGD:13204790 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nell1 neural EGFL like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452981 NCBI chr 1:99,709,305...100,573,872
Ensembl chr 1:99,709,793...100,573,860 		JBrowse link
G Nos3 nitric oxide synthase 3 onset ISO DNA:SNP:3'utr: (rs2070744) (human) RGD PMID:21472143 RGD:126925218 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP mRNA,protein:increased expression:Esophagus RGD PMID:22165968 RGD:5687745 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
protein: increased expression: esophagus		 CTD
RGD		 PMID:12507933 PMID:12055587 RGD:13207437 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 PMID:24952744 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Smo smoothened, frizzled class receptor treatment IMP RGD PMID:23108119 RGD:150340553 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Sod2 superoxide dismutase 2 IDA RGD PMID:17785574 RGD:2317403 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Spart spartin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248 		JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b onset ISO DNA:SNP:3'utr: (rs11775256) (human) RGD PMID:21472143 RGD:126925218 NCBI chr15:44,839,818...44,867,582 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23525077 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Vdr vitamin D receptor susceptibility
disease_progression		 ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
DNA:amplication: :		 RGD PMID:25910066 PMID:24951052 RGD:11055189, RGD:13432070 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
esophagus small cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 IEP protein:increased expression:esophagus RGD PMID:16140947 RGD:1600174 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
esophagus squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21206495 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773 		JBrowse link
G Ajuba ajuba LIM protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 PMID:22960999 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Atm ATM serine/threonine kinase disease_progression ISO Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) RGD PMID:17019709 RGD:150340713 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933 		JBrowse link
G Azin1 antizyme inhibitor 1 ISO RGD PMID:24302582 RGD:14700707 NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578 		JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Blvrb biliverdin reductase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375 		JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO RGD PMID:21165554 RGD:126781701 NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO DNA:SNP: :rs799917 (human) RGD PMID:23749772 RGD:126925960 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 disease_progression ISO RGD PMID:26832883 RGD:14398496 NCBI chr16:18,217,404...18,220,979
Ensembl chr16:18,217,407...18,220,979 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547 		JBrowse link
G Calr calreticulin ameliorates ISO CTD Direct Evidence: marker/mechanism
human cells in a mouse model		 CTD
RGD		 PMID:21517111 PMID:19684620 PMID:23814025 RGD:150521703, RGD:150521679 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Capza1 capping actin protein of muscle Z-line subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480 		JBrowse link
G Car1 carbonic anhydrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208 		JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
G Cbx8 chromobox 8 severity ISO mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024 		JBrowse link
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Cfl1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712 		JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:11860825 RGD:14700943 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 IEP protein:increased expression:esophagus (rat) RGD PMID:18618592 RGD:7829715 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628 		JBrowse link
G Dcc DCC netrin 1 receptor ISO DNA:deletions:multiple (human) RGD PMID:8187090 RGD:734879 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
G Dido1 death inducer-obliterator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Egfr epidermal growth factor receptor severity ISO protein:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma		 CTD
ClinVar
RGD		 PMID:21947696 PMID:23485129 PMID:25157968 PMID:10385363 RGD:5131486 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 disease_progression ISO protein:increased expression:esophagus:
protein:increased expression:esophagus mucosa:		 RGD PMID:24649311 PMID:24805087 RGD:9589143, RGD:9590071 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 disease_progression ISO protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17965222 PMID:25151357 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 susceptibility
disease_progression		 ISO DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
protein:altered localization:nucleus		 RGD PMID:24916311 PMID:18000820 RGD:126781764, RGD:126781765 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO RGD PMID:23263828 RGD:11252162 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO RGD PMID:25613619 PMID:21165554 RGD:126781697, RGD:126781701 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Fanca FA complementation group A ISO DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216 		JBrowse link
G Fat3 FAT atypical cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 treatment ISO RGD PMID:25989802 RGD:150520041 NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242 		JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743 		JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366 		JBrowse link
G Glo1 glyoxalase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 no_association ISO RGD PMID:11860825 PMID:17916905 PMID:25432134 RGD:14700943, RGD:14700982, RGD:14700948 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17173682 PMID:25432134 PMID:17916905 RGD:14700948, RGD:14700982 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:5,973,062...5,978,565 JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28914995 NCBI chr  X:74,085,871...74,094,488 JBrowse link
G Hoxb7 homeo box B7 severity ISO protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr10:81,252,616...81,256,034
Ensembl chr10:81,252,553...81,256,034 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 severity ISO human cells in mouse model RGD PMID:32367071 RGD:149735568 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Jak2 Janus kinase 2 severity ISO protein:increased phosphorylation:esophagus squamous epithelium (human) RGD PMID:32158193 RGD:127285669 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kat2b lysine acetyltransferase 2B ISO mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr 9:6,562,525...6,667,064 JBrowse link
G Kdm4c lysine demethylase 4C severity
susceptibility		 ISO protein:increased expression:esophageal epithelium, nucleus (human)
DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)		 RGD PMID:24224128 PMID:15805246 RGD:9587746, RGD:9587752 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818 		JBrowse link
G Kdm5b lysine demethylase 5B severity ISO protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872 		JBrowse link
G Kdm6a lysine demethylase 6A ameliorates ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:esophagus (human)
protein:increased expression:esophagus (human)		 CTD
RGD		 PMID:25151357 PMID:31804468 PMID:29351209 RGD:150429742, RGD:150429739 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25151357 PMID:25151357 RGD:9588233 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO DNA:mutations:multiple (human)
mRNA:increased expression:esophagus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25151357 PMID:25151357 PMID:29532228 RGD:9588233, RGD:150521712 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Krt13 keratin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:85,052,122...85,056,032
Ensembl chr10:85,051,889...85,056,084 		JBrowse link
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt16 keratin 16 IEP RGD PMID:8950218 RGD:633113 NCBI chr10:85,168,357...85,171,744 JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392 		JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:85,075,835...85,080,552 JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24716982 NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067 		JBrowse link
G Lta lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Lzts1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:10097140 NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203 		JBrowse link
G Mad2l1 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 4:95,906,692...95,918,885
Ensembl chr 4:95,906,817...95,913,470 		JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase susceptibility ISO DNA:snp:cds:p.E346K (rs140693) (human)
DNA:snp:intron:IVS5-140A>G (rs3138355) (human)		 RGD PMID:15205355 PMID:25162968 RGD:9588976, RGD:9588980 NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, esophagus		 CTD
RGD		 PMID:25520135 PMID:21674174 RGD:126790574 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756 		JBrowse link
G Mir217 microRNA 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr14:102,531,505...102,531,609
Ensembl chr14:102,531,505...102,531,609 		JBrowse link
G Mir423 microRNA 423 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24205249 NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226 		JBrowse link
G Mlh1 mutL homolog 1 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus RGD PMID:21674174 RGD:126790574 NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617 		JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus
DNA, protein:hypermethylation, decreased expression:esophagus		 RGD PMID:22265839 PMID:21674174 PMID:24366688 RGD:126790560, RGD:126790574, RGD:126790573 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr19:10,826,032...10,827,048 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G Pfn1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729852 PMID:20729853 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:130,147,276...130,162,850
Ensembl chr 5:130,147,204...130,162,856 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 disease_progression ISO RGD PMID:19492245 RGD:6482249 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Psme1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890 		JBrowse link
G Psme2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15756444 PMID:16543248 PMID:18197933 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptprt protein tyrosine phosphatase, receptor type, T susceptibility ISO DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) RGD PMID:25967969 RGD:150520191 NCBI chr 3:150,189,343...151,287,977
Ensembl chr 3:150,194,859...151,288,124 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rnf6 ring finger protein 6 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:12154016 NCBI chr12:8,816,777...8,826,870
Ensembl chr12:8,816,833...8,826,847 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO DNA:SNP: :rs2014300 (human) RGD PMID:30666517 RGD:126775149 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO mRNA:increased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Runx3 RUNX family transcription factor 3 disease_progression ISO mRNA:decreased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156 		JBrowse link
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822 		JBrowse link
G Serpinb3 serpin family B member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr13:23,274,120...23,280,082
Ensembl chr13:23,274,484...23,313,682 		JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 Ensembl chr 5:145,826,201...145,831,314 JBrowse link
G Slc39a6 solute carrier family 39 member 6 ISO CTD Direct Evidence: therapeutic CTD PMID:23644492 NCBI chr18:15,864,874...15,885,417
Ensembl chr18:15,864,875...15,885,417 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729853 NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18167182 PMID:21517111 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801978 NCBI chr 2:117,536,929...117,539,338
Ensembl chr 2:117,536,929...117,539,338 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335 		JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO DNA:SNP:exon:p.R213H, 638G>A (human) RGD PMID:12455060 RGD:1581448 NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562 		JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 severity ISO mRNA:decreased expression:esophagus squamous epithelium (human)
associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human)
DNA:mutations		 RGD PMID:26093090 PMID:27050164 PMID:26873401 RGD:11528815, RGD:150429668, RGD:150429656 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:27050164 RGD:150429668 NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193 		JBrowse link
G Tnfaip8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21969086 NCBI chr18:43,183,854...43,299,517
Ensembl chr18:43,183,916...43,299,517 		JBrowse link
G Tnxb tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198
G Tp53 tumor protein p53 ISO DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16543248 PMID:25151357 PMID:28789369 RGD:14995932 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
G Tpm1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Tpm2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Txndc17 thioredoxin domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:56,832,749...56,835,721 JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11641616 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked ISO DNA:mutations:multiple (human) RGD PMID:25151357 RGD:9588233 NCBI chr  Y:942,838...1,105,313
Ensembl chr  Y:924,168...1,103,422 		JBrowse link
G Ventx VENT homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:86,483,893...86,484,900
Ensembl chr  X:86,483,893...86,484,954 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 disease_progression ISO RGD PMID:24626331 RGD:21081532 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO esophageal squamous cell carcinoma, OMIM:133239
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic		 CTD
ClinVar
RGD		 PMID:11956080 PMID:25526675 PMID:11956080 RGD:1599874 NCBI chr19:42,432,141...43,360,278 JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:115,433,444...115,436,691
Ensembl chr  X:115,433,259...115,436,692 		JBrowse link
palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhbdf2 rhomboid 5 homolog 2 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome
ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER
ClinVar Annotator: match by OMIM:148500		 OMIM
ClinVar		 PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:25741868 More... NCBI chr10:101,833,157...101,860,283
Ensembl chr10:101,833,157...101,860,283 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      cancer 5018
        organ system cancer 4850
          gastrointestinal system cancer 2539
            esophageal cancer 189
              esophageal carcinoma + 176
              esophageal neuroendocrine tumor 0
              esophagus lymphoma 0
              esophagus melanoma 0
              esophagus sarcoma + 0
              malignant granular cell esophageal tumor 0
              neurofibroma of the esophagus 0
              palmoplantar keratoderma-esophageal carcinoma syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      Neoplasms by Site 6698
        Digestive System Neoplasms 3440
          Gastrointestinal Neoplasms 3319
            Esophageal Neoplasms 234
              esophageal cancer 189
                esophageal carcinoma + 176
                esophageal neuroendocrine tumor 0
                esophagus lymphoma 0
                esophagus melanoma 0
                esophagus sarcoma + 0
                malignant granular cell esophageal tumor 0
                neurofibroma of the esophagus 0
                palmoplantar keratoderma-esophageal carcinoma syndrome 1
paths to the root